Gnathodiaphyseal dysplasia with a novel genetic variant in a large family from Iran

Yassaee, Vahid Reza; Khojasteh, Arash; Hashemi‐Gorji, Feyzollah; Sadeghi, Hossein; Safiaghdam, Hannaneh; Mirfakhraie, Reza

doi:10.1002/mgg3.2004

Cited by 2 publications

(3 citation statements)

References 31 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…GDD is caused by variants localized in a few exons, 7,11,15,16 particularly in regions that encode the cytoplasmic or extracellular domains of ANO5 (Figure 4). Cysteine residues 356 and 360 are the most frequent variant sites for GDD.…”

Section: Discussionmentioning

confidence: 99%

“…Mandibular fractures also occurred with jaw lesions. 11 The frequency of tooth anomalies was 48% (32/67), including recurrent infections and displaced, impacted, or missing teeth, and anomalies were present only in individuals with jaw lesions (diagnosed or not).…”

Section: Literaturementioning

confidence: 99%

“…Fractures were the most frequent, occurring in 45% (30/67) of the patients, and most of these occurred during childhood, with an onset ranging from the prenatal period 10 to 42 years of age. 11 Long bones were the most commonly involved, but any bone could be affected. 8,[12][13][14] Bone bowing was observed in 19% of the individuals (13/67), and diaphyseal thickening was observed in 16% (11/67).…”

Section: Literaturementioning

confidence: 99%

See 2 more Smart Citations

Gnathodiaphyseal dysplasia: Diagnostic clues from two fetal cases and literature review

Cuvelier,

Trost,

Stichelbout

et al. 2024

Prenatal Diagnosis

View full text Add to dashboard Cite

This article presents two fetal cases of gnathodiaphyseal dysplasia (GDD), a rare autosomal dominant disorder, and reviews the relevant literature. The cases involved two fetuses exhibiting bone bowing, which led to the diagnosis of GDD. Genetic testing revealed two de novo variants of the ANO5 gene, confirming the diagnosis. A literature review was conducted to explore GDD's clinical and paraclinical presentation, diagnosis, and management. GDD is a rare but frequently inherited cause of bone fragility and jaw lesions characterized by a gain‐of‐function variant within the ANO5 gene. Clinical manifestations range from recurrent dental infections with mild jaw lesions to severe bone fragility with several fractures associated with large jaw lesions requiring disfiguring surgeries. Diagnostic techniques depend on the context and include targeted genetic testing of ANO5, untargeted molecular analysis with whole‐exome sequencing, or whole‐genome sequencing. This case report highlights the importance of recognizing GDD as a novel cause of bone bowing and fractures during pregnancy. By summarizing the literature, this article contributes to healthcare professionals' knowledge and improves the recognition, diagnosis, and care of patients with GDD.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Literaturementioning

confidence: 99%